Incidental Mutation 'R2107:Plagl1'
ID 232178
Institutional Source Beutler Lab
Gene Symbol Plagl1
Ensembl Gene ENSMUSG00000019817
Gene Name pleiomorphic adenoma gene-like 1
Synonyms Zac1
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.408) question?
Stock # R2107 (G1)
Quality Score 180
Status Validated
Chromosome 10
Chromosomal Location 12966576-13007438 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 13004391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121325] [ENSMUST00000121646] [ENSMUST00000121766] [ENSMUST00000130313] [ENSMUST00000143582] [ENSMUST00000145103] [ENSMUST00000193426]
AlphaFold Q9JLQ4
Predicted Effect unknown
Transcript: ENSMUST00000121325
AA Change: Q553P
SMART Domains Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: Q553P

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121646
AA Change: Q553P
SMART Domains Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: Q553P

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121766
AA Change: Q553P
SMART Domains Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: Q553P

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135095
Predicted Effect probably benign
Transcript: ENSMUST00000130313
SMART Domains Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143582
Predicted Effect probably benign
Transcript: ENSMUST00000145103
Predicted Effect probably benign
Transcript: ENSMUST00000193426
SMART Domains Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817

DomainStartEndE-ValueType
ZnF_C2H2 4 26 1e-4 SMART
ZnF_C2H2 32 56 3.2e-6 SMART
ZnF_C2H2 62 84 1.3e-5 SMART
ZnF_C2H2 91 113 1.1e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice exhibit significantly reduced birth weights. Heterozygous mice with a paternal copy of the null allele show reduced fetal and birth weights, altered ossification, dyspnea and background-dependent neonatal lethality, as well as wrinkled skin and curly tails with 30% penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Other mutations in Plagl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Plagl1 APN 10 13,003,616 (GRCm39) unclassified probably benign
R0554:Plagl1 UTSW 10 13,002,926 (GRCm39) missense probably benign 0.07
R0842:Plagl1 UTSW 10 13,004,298 (GRCm39) unclassified probably benign
R0967:Plagl1 UTSW 10 13,003,986 (GRCm39) unclassified probably benign
R1610:Plagl1 UTSW 10 13,004,706 (GRCm39) unclassified probably benign
R2002:Plagl1 UTSW 10 13,004,402 (GRCm39) unclassified probably benign
R2108:Plagl1 UTSW 10 13,004,391 (GRCm39) unclassified probably benign
R2191:Plagl1 UTSW 10 13,004,685 (GRCm39) unclassified probably benign
R4061:Plagl1 UTSW 10 13,004,515 (GRCm39) unclassified probably benign
R4062:Plagl1 UTSW 10 13,004,515 (GRCm39) unclassified probably benign
R4631:Plagl1 UTSW 10 13,003,743 (GRCm39) unclassified probably benign
R4924:Plagl1 UTSW 10 13,003,301 (GRCm39) missense possibly damaging 0.85
R5071:Plagl1 UTSW 10 13,003,005 (GRCm39) missense probably damaging 1.00
R5138:Plagl1 UTSW 10 13,003,919 (GRCm39) unclassified probably benign
R5893:Plagl1 UTSW 10 13,003,938 (GRCm39) unclassified probably benign
R5971:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
R6061:Plagl1 UTSW 10 13,003,639 (GRCm39) unclassified probably benign
R6138:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
R6170:Plagl1 UTSW 10 13,002,975 (GRCm39) missense probably damaging 1.00
R6625:Plagl1 UTSW 10 13,003,806 (GRCm39) unclassified probably benign
R6970:Plagl1 UTSW 10 13,000,860 (GRCm39) missense probably damaging 1.00
R7035:Plagl1 UTSW 10 13,003,977 (GRCm39) unclassified probably benign
R8265:Plagl1 UTSW 10 13,004,625 (GRCm39) missense unknown
R9145:Plagl1 UTSW 10 13,003,872 (GRCm39) missense unknown
R9668:Plagl1 UTSW 10 13,004,466 (GRCm39) missense unknown
R9676:Plagl1 UTSW 10 13,003,955 (GRCm39) missense unknown
U15987:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
Z1176:Plagl1 UTSW 10 13,004,460 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTACTCCCCAGAATGGCT -3'
(R):5'- CAGGATAGCAGTGTTGGAGC -3'

Sequencing Primer
(F):5'- CCCCAGAATGGCTTTGTGAATAGC -3'
(R):5'- ATAGCAGTGTTGGAGCCAGCTG -3'
Posted On 2014-09-18